Canonical Allele Identifier: CA2841766580
Community Standard Title: NM_025144.4(ALPK1):c.119dup (p.Ala41SerfsTer24)
Gene: ALPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.112377896dup , CM000666.2:g.112377896dup GRCh38
NC_000004.11:g.113299052dup , CM000666.1:g.113299052dup GRCh37
NC_000004.10:g.113518501dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_025144.4:c.119dup MANE Select NP_079420.3:p.Ala41SerfsTer24
ENST00000650871.1:c.119dup MANE Select ENSP00000498374.1:p.Ala41SerfsTer24
NM_001102406.1:c.119dup NP_001095876.1:p.Ala41SerfsTer24
NM_001102406.2:c.119dup NP_001095876.1:p.Ala41SerfsTer24
NM_001253884.1:c.40dup NP_001240813.1:p.Glu14GlyfsTer?
NM_001253884.2:c.40dup NP_001240813.1:p.Glu14GlyfsTer?
NM_025144.3:c.119dup NP_079420.3:p.Ala41SerfsTer24
ENST00000177648.13:c.119dup ENSP00000177648.9:p.Ala41SerfsTer24
ENST00000458497.5:c.119dup ENSP00000398048.1:p.Ala41SerfsTer24
ENST00000458497.6:c.119dup ENSP00000398048.1:p.Ala41SerfsTer24
ENST00000504176.6:c.40dup ENSP00000426044.2:p.Glu14GlyfsTer?
ENST00000505127.5:c.119dup ENSP00000425559.1:p.Ala41SerfsTer24
ENST00000509688.5:n.298dup
ENST00000509722.5:c.119dup ENSP00000424492.1:p.Gly41ArgfsTer4
ENST00000515106.1:c.119dup ENSP00000425273.1:p.Gly41ArgfsTer4
ENST00000515330.5:c.119dup ENSP00000423978.1:p.Ala41SerfsTer24
XM_005263245.3:c.119dup XP_005263302.1:p.Ala41SerfsTer24
XM_005263245.4:c.119dup XP_005263302.1:p.Ala41SerfsTer24
XM_005263246.3:c.119dup XP_005263303.1:p.Ala41SerfsTer24
XM_005263246.4:c.119dup XP_005263303.1:p.Ala41SerfsTer24
XM_005263247.3:c.40dup XP_005263304.1:p.Glu14GlyfsTer?
XM_005263248.3:c.40dup XP_005263305.1:p.Glu14GlyfsTer?
XM_006714326.2:c.119dup XP_006714389.1:p.Ala41SerfsTer24
XM_006714326.3:c.119dup XP_006714389.1:p.Ala41SerfsTer24
XM_011532280.1:c.119dup XP_011530582.1:p.Ala41SerfsTer24
XM_011532281.1:c.119dup XP_011530583.1:p.Ala41SerfsTer24
XM_011532282.1:c.119dup XP_011530584.1:p.Ala41SerfsTer24
XM_011532283.1:c.119dup XP_011530585.1:p.Ala41SerfsTer24
XM_017008633.1:c.119dup XP_016864122.1:p.Ala41SerfsTer24
XM_017008634.1:c.119dup XP_016864123.1:p.Ala41SerfsTer24
XM_017008635.1:c.119dup XP_016864124.1:p.Ala41SerfsTer24
XM_017008636.1:c.119dup XP_016864125.1:p.Ala41SerfsTer24
XM_017008637.1:c.119dup XP_016864126.1:p.Ala41SerfsTer24
XM_017008638.2:c.119dup XP_016864127.1:p.Ala41SerfsTer24
XM_017008639.1:c.119dup XP_016864128.1:p.Ala41SerfsTer24
XM_017008640.1:c.119dup XP_016864129.1:p.Ala41SerfsTer24
XM_017008641.2:c.119dup XP_016864130.1:p.Ala41SerfsTer24
XM_017008642.1:c.119dup XP_016864131.1:p.Ala41SerfsTer24
XM_017008643.1:c.119dup XP_016864132.1:p.Ala41SerfsTer24
XM_017008645.1:c.119dup XP_016864134.1:p.Ala41SerfsTer24
XM_017008646.1:c.119dup XP_016864135.1:p.Ala41SerfsTer24
XM_017008647.1:c.40dup XP_016864136.1:p.Glu14GlyfsTer?
XM_017008648.1:c.40dup XP_016864137.1:p.Glu14GlyfsTer?
XM_017008651.1:c.-466dup XP_016864140.1:n.-466dup